Hs01268556_cn

• Gene Symbol: AKR1A1
• Assay Reference Genome Location: Chr.1:45568638 on build GRCh38
• Cytoband: 1p34.1

Target Gene Details

• Entrez Gene ID: 10327
• Gene Name: aldo-keto reductase family 1 member A1
• Gene Aliases: ALDR1, ALR, ARM, DD3, HEL-S-6
• Location: Chr.1:45550779-45570051 on Build GRCh38
• Assay Gene Location: Within Exon 7

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
AKR1A1	NM_001202413.1	7	996	NP_001189342.1
	NM_001202414.1	8	1124	NP_001189343.1
	NM_006066.3	7	1213	NP_006057.1
	NM_153326.2	6	1085	NP_697021.1
	XM_011540491.2	5	944	XP_011538793.1
	XM_011540492.2	6	910	XP_011538794.1
	AK293083.1	6	821
	BC000670.2	7	1142	AAH00670.1
	BC005394.1	6	801	AAH05394.1
	BT007003.1	5	706	AAP35649.1
	BU631634.1	4	385
	CR457010.1	5	706	CAG33291.1
	EU668319.1	6	1042
	EU794588.1	6	1042
	J04794.1	6	766	AAA51711.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
esv3893512	Chr.1:45476180 - 46068871 on Build GRCh38	Gain	IPP TMEM69 RPS15AP10 AKR1A1 PRDX1 NASP MAST2 PIK3R3 CCDC163P MMACHC GPBP1L1 TESK2 CCDC17
nsv829726	Chr.1:45431909 - 45637514 on Build GRCh38	Loss	NASP CCDC163P MMACHC AKR1A1 GPBP1L1 PRDX1 TESK2 CCDC17

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

oxidoreductase, reductase, metabolite interconversion enzyme

Gene Ontology Categories:

Process(es)

glucose metabolic process
cellular aldehyde metabolic process
glucuronate catabolic process to xylulose 5-phosphate
L-ascorbic acid biosynthetic process
D-glucuronate catabolic process
aldehyde catabolic process
oxidation-reduction process
glutathione derivative biosynthetic process

Function(s)

alditol:NADP+ 1-oxidoreductase activity
aldo-keto reductase (NADP) activity
protein binding
electron carrier activity
L-glucuronate reductase activity